Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3323606012 | Sengers syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323608013 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323609017 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6948081000146110 | syndroom van congenitaal cataract, hypertrofische cardiomyopathie en mitochondriale myopathie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6948091000146112 | syndroom van congenitaal cataract, hypertrofische cardiomyopathie en mitochondriale myopathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6948101000146117 | syndroom van Sengers | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3323607015 | A mitochondrial disease with characteristics of cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. May present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Those who survive the neonatal period and infancy manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients. In the majority of cases, mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The reported mutations are transmitted in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 3 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | congenitaal cataract | false | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 4 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | Hypertrophy (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Myocardium structure | false | Inferred relationship | Some | 5 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Congenital cardiovascular disorder (disorder) | false | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Congenital anomaly of myocardium | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | Hypertrophy (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | cataract | false | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Secondary myopathy | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR